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Results 1 - 3 of 3 for Retinal dystrophy obesity
  1. ... Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):67-70. doi: 10.1038/79201. Citation on PubMed ... linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal ...
  2. ... with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and that abnormal fat storage may cause truncal obesity in people with Cohen syndrome. VPS13B This condition ...
  3. Farooqi IS, O'Rahilly S. Genetic syndromes associated with ... The Retinal Atlas . 2nd ed. Philadelphia, PA: Elsevier; 2017:chap ...